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rs33913413

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs33913413(C;G)
Make rs33913413(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5225729
GeneHBB
is asnp
is mentioned by
dbSNPrs33913413
ebirs33913413
HLIrs33913413
Exacrs33913413
Varsomers33913413
Maprs33913413
PheGenIrs33913413
hapmaprs33913413
1000 genomesrs33913413
hgdprs33913413
ensemblrs33913413
gopubmedrs33913413
geneviewrs33913413
scholarrs33913413
googlers33913413
pharmgkbrs33913413
gwascentralrs33913413
openSNPrs33913413
23andMers33913413
23andMe allrs33913413
SNP Nexus

SNPshotrs33913413
SNPdbers33913413
MSV3drs33913413
GWAS Ctlgrs33913413
Max Magnitude0
OMIM141900
Desc
Variant0361
Relatedalso
OMIM141900
Desc
Variant0416
Relatedalso
ClinVar
Risk rs33913413(A,G,T;A,G,T)
Alt rs33913413(A,G,T;A,G,T)
Reference rs33913413(C;C)
Significance Pathogenic
Disease Beta-plus-thalassemia Beta thalassemia intermedia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia Beta thalassemia intermedia
Reversed 1
HGVS NC_000011.9:g.5246959G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016709.26, RCV000029987.1,


[PMID 1917531] Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians.


[PMID 2200760] Beta-thalassemia in Turkey.


[PMID 2458145] Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.


[PMID 2920213] Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.


[PMID 9140720] A significant beta-thalassemia heterogeneity in the United Arab Emirates.


[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). [PMID 1634368] Three beta-thalassemia mutations in the Japanese: IVS-II-1 (G----A), IVS-II-848 (C----G), and codon 90 (GAG----TAG).